4 citations
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December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
10 citations
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July 2015 in “Clinical and Experimental Dermatology” The authors reported a possible association between the use of etanercept and the development of trichorrhexis nodosa, a hair shaft disorder, in a patient without apparent external causes.
December 2014 in “Journal of Biomedical Research” In a mouse model of peripheral vascular disease, this study found that recombinant thymosin β4 treatment increased expression levels of certain proteins, promoting angiogenesis.
December 2025 in “International Journal of Molecular Sciences” This study found that an aqueous extract of Bacopa procumbens improved motor function and preserved neuronal structure in a mouse model of Parkinson's disease, suggesting its neuroprotective potential.
October 2025 in “Diagnostics” In this case study, an 18-year-old woman's triangular alopecic patch diagnosed as temporal triangular alopecia was considered non-progressive and had no impact on her quality of life, so no treatment was initiated.
4 citations
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July 2024 in “Radiotherapy and Oncology” This study highlights that variations in clinical outcome reporting can undermine the validation of NTCP models for RIA, stressing the need for a standardized and objective scoring system.
5 citations
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November 2015 in “Turk Pediatri Arsivi-turkish Archives of Pediatrics” This report highlights a preterm newborn with hair-thread tourniquet syndrome affecting multiple toes, emphasizing the importance of early identification and removal to prevent severe complications.
3 citations
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May 2025 in “Cell Death and Disease” This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.
3 citations
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January 2019 in “Annals of dermatology/Annals of Dermatology” Hydroxychloroquine effectively treated twenty-nail dystrophy in a patient with alopecia areata.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
January 2024 in “Wiadomości Lekarskie” This study reviews modern treatment techniques for large, life-threatening pulmonary emboli and concludes that pulmonary artery thrombectomy is a safe and effective method, though it remains underutilized. Results are not reported in the abstract.
November 2024 in “Journal of Investigative Dermatology” This study identified PTEN as a key regulator in non-healing venous leg ulcers, suppressing immune responses and lymphangiogenesis, suggesting its potential as a therapeutic target for promoting VLU healing.
November 2009 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair transplantation effectively treated a bald patch in an 18-year-old woman with Temporal Triangular Alopecia.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” This case report found that a patient with cutaneous polyarteritis nodosa experienced rare and severe manifestations, including digital gangrene and a breast ulcer, requiring aggressive treatment and resulting in below-knee amputation.
9 citations
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May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
May 2012 in “Research and reports in neonatology” This article presents a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities, but reports no new findings beyond this case description.
3 citations
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May 2024 in “Cureus” This review revisits hair-thread tourniquet syndrome, highlighting the importance of prompt diagnosis and treatment by removing the constricting hair or similar substance to prevent damage to affected body parts, aiming to raise healthcare professionals' awareness for better prevention and management.
January 2015 in “Current Sports Medicine Reports” This case study highlights the need for individualized assessment and discussion for athletes with idiopathic thrombocytopenic purpura due to the lack of definitive guidelines on safe participation in contact sports, noting a low bleeding risk when platelet counts are above 50,000.
June 2021 in “International journal of research in dermatology” This case report describes a man with trichorrhexis nodosa of the beard, who experienced symptomatic improvement after being advised to shave and avoid brushing, confirming the diagnosis.
July 2023 in “International Journal of Molecular Sciences” In this study, Trapa bispinosa Roxb. pericarp extract demonstrated inhibitory effects on 5α-reductase activity both in vitro using LNCaP cells and in vivo in a mouse model of benign prostatic hyperplasia, suggesting its potential role in managing the condition.
March 2018 in “Gazi medical journal” This study found that adults with β-thalassemia major had a significantly higher prevalence of skin, hair, and nail disorders compared to healthy controls, influenced by factors like age, gender, and ferritin levels.
January 2003 in “Hepatology” 7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
April 2018 in “Journal of Investigative Dermatology” This study found that plasma cardiac troponin I levels were highest in subjects with alopecia areata, potentially indicating increased heart remodeling and a need for close cardiovascular monitoring in these individuals.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
5 citations
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June 2022 in “Biophysical Journal” This study used a probabilistic Boolean network model to explore hair follicle cell fate regulation and predicted that varying TGF-β levels, in coordination with BMP and TNF, can influence either apoptosis or cell proliferation during different follicle growth stages.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, evidence that trichodysplasia spinulosa-associated polyomavirus targets follicular keratinocytes was observed in a pediatric case, suggesting these cells as the primary viral target.